CABLES2

protein-coding

Cdk5 and Abl enzyme substrate 2

Gene summary

Predicted to be involved in cell division and regulation of cell cycle. Predicted to act upstream of or within several processes, including DNA damage response, signal transduction by p53 class mediator; gastrulation; and in utero embryonic development. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C20orf150

MANE transcript

NM_031215.3

Inheritance

—

ClinVar variants

U:101B:3

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr20:62,388,634-62,407,285

External References & Databases

Ensembl (ENSG00000149679)

Transcript & Mutation Effects

hg38 • Region Span ~18.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CABLES2 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 101

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031215.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			99 clinvar	3 clinvar		102
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	101	3	0	104

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031215.3	RefSeq	NP_112492.2	10	MANE Select
ENST00000279101.10	Ensembl	ENSP00000279101.5	10	MANE Select
ENST00000453274.1	Ensembl	ENSP00000398535.1	7	Standard
ENST00000923983.1	Ensembl	ENSP00000594042.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Factors involved in megakaryocyte development and platelet production
Hemostasis

Biological Process

cell cycle
cell division
regulation of cell cycle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000279101
Coding exons: 10
Length: 18654
Individuals with no LoFs: 125709
Homozygous LoFs: 0
Heterozygous LoFs: 38
Defined: 125747
p: 0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.893	194	232	0.835	0.0000155	3026
Missense (PolyPhen)		92	112.03	0.82121		1147
Synonymous	-0.282	110	106	1.03	0.00000783	1048
Loss of Function	2.07	9	18.6	0.483	9.42e-7	231

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00044	0.00043	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00016	0.00016	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Unknown. Probably involved in G1-S cell cycle transition.;

Recessive Scores

pRec: 0.121

Intolerance Scores

LoFtool: 0.765
RVIS EVS: -0.07
RVIS percentile EVS: 48.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.896

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium